Linked Data
ClinVar Variation Id:
245671
dbSNP Id:
rs4149637
ExAC:
12:6443001 G / A
gnomAD v2:
12-6443001-G-A
gnomAD v3:
12-6333835-G-A
gnomAD v4:
12-6333835-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333835G>A , CM000674.2:g.6333835G>A | GRCh38 |
| NC_000012.11:g.6443001G>A , CM000674.1:g.6443001G>A | GRCh37 |
| NC_000012.10:g.6313262G>A | NCBI36 |
| NG_007506.1:g.13261C>T , LRG_193:g.13261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.258C>T | ||
| ENST00000437813.8:c.224C>T | ENSP00000513672.1:p.Pro75Leu | |
| ENST00000440083.7:c.224C>T | ENSP00000413224.3:p.Pro75Leu | |
| ENST00000535958.2:c.*51C>T | ENSP00000513673.1:n.*51C>T | |
| ENST00000698339.1:c.224C>T | ENSP00000513670.1:p.Pro75Leu | |
| ENST00000698340.1:c.224C>T | ENSP00000513671.1:p.Pro75Leu | |
| ENST00000162749.7:c.224C>T MANE Select | ENSP00000162749.2:p.Pro75Leu | |
| ENST00000162749.6:c.224C>T | ENSP00000162749.2:p.Pro75Leu | |
| ENST00000366159.8:c.224C>T | ENSP00000380389.3:p.Pro75Leu | |
| ENST00000437813.7:n.185C>T | ||
| ENST00000440083.6:c.224C>T | ENSP00000413224.2:p.Pro75Leu | |
| ENST00000534885.5:c.70C>T | ENSP00000441803.1:p.Arg24Trp | |
| ENST00000535958.1:n.470C>T | ||
| ENST00000536194.1:c.197C>T | ENSP00000442919.1:p.Pro66Leu | |
| ENST00000539372.5:c.224C>T | ENSP00000442059.1:p.Pro75Leu | |
| ENST00000540022.5:c.193+256C>T | ENSP00000438343.1:n.193+256C>T | |
| ENST00000543048.5:c.214+10C>T | ENSP00000439981.1:n.214+10C>T | |
| ENST00000543995.5:c.193+256C>T | ENSP00000442405.1:n.193+256C>T | |
| NM_001065.3:c.224C>T , LRG_193t1:c.224C>T | NP_001056.1:p.Pro75Leu | |
| NM_001346091.1:c.-101C>T | NP_001333020.1:n.-101C>T | |
| NM_001346092.1:c.-354C>T | NP_001333021.1:n.-354C>T | |
| NR_144351.1:n.527C>T | ||
| NM_001065.4:c.224C>T MANE Select | NP_001056.1:p.Pro75Leu | |
| NM_001346091.2:c.-101C>T | NP_001333020.1:n.-101C>T | |
| NM_001346092.2:c.-354C>T | NP_001333021.1:n.-354C>T | |
| NR_144351.2:n.486C>T |